CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTALDELAY
General Information (adopted from Orphanet):
| Synonyms, Signs: |
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| Number of Symptoms | 22 |
| OrphanetNr: | |
| OMIM Id: |
616266
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| ICD-10: |
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| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
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| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: | No data available. |
Symptom Information:
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(HPO:0002000) | Short columella | 11 / 7739 | ||||
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(HPO:0000347) | Micrognathia | 426 / 7739 | ||||
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(HPO:0000205) | Pursed lips | 6 / 7739 | ||||
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(HPO:0000470) | Short neck | 345 / 7739 | ||||
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(HPO:0000293) | Full cheeks | 85 / 7739 | ||||
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(HPO:0000343) | Long philtrum | 262 / 7739 | ||||
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(HPO:0000431) | Wide nasal bridge | 290 / 7739 | ||||
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(HPO:0000750) | Delayed speech and language development | 197 / 7739 | ||||
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(HPO:0001263) | Global developmental delay | 853 / 7739 | ||||
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(HPO:0006380) | Knee flexion contracture | 56 / 7739 | ||||
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(HPO:0001181) | Adducted thumb | 31 / 7739 | ||||
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(HPO:0003273) | Hip contracture | 30 / 7739 | ||||
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(HPO:0002987) | Elbow flexion contracture | 64 / 7739 | ||||
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(HPO:0012385) | Camptodactyly | 113 / 7739 | ||||
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(HPO:0002650) | Scoliosis | rare [HPO:skoehler] | 705 / 7739 | |||
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(HPO:0002803) | Congenital contracture | 45 / 7739 | ||||
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(HPO:0002020) | Gastroesophageal reflux | rare [HPO:skoehler] | 101 / 7739 | |||
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(HPO:0000023) | Inguinal hernia | 181 / 7739 | ||||
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(HPO:0001537) | Umbilical hernia | 206 / 7739 | ||||
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(HPO:0001252) | Muscular hypotonia | 990 / 7739 | ||||
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(HPO:0002059) | Cerebral atrophy | rare [HPO:skoehler] | 171 / 7739 | |||
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(HPO:0001272) | Cerebellar atrophy | rare [HPO:skoehler] | 197 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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